ClinVar Miner

List of variants in gene SPTBN2 studied for Autosomal recessive cerebellar ataxia

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Total variants: 5
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NM_006946.3(SPTBN2):c.1722G>A (p.Glu574=) rs143083152
NM_006946.3(SPTBN2):c.2162G>A (p.Arg721His) rs200016211
NM_006946.3(SPTBN2):c.3430C>T (p.Arg1144Ter) rs1402216317
NM_006946.3(SPTBN2):c.3431G>A (p.Arg1144Gln) rs558572111
NM_006946.3(SPTBN2):c.968A>G (p.Gln323Arg) rs190532690

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